A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521294



Internal ID15101901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:39538456..39648605hg38UCSC Ensembl
Innerchr17:37694709..37804858hg19UCSC Ensembl
Innerchr17:34948235..35058384hg18UCSC Ensembl
Innerchr17:34948235..35058384hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38110150
hg19110150
hg18110150
hg17110150
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697898
Samples
Known GenesNEUROD2, PPP1R1B, STARD3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521294
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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